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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1941458664
Gene: HTRA1
HGNC
NCBI
Linked Data
dbSNP Id:
rs2097480903
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.122461219del , CM000672.2:g.122461219del
GRCh38
NC_000010.10:g.124220735del , CM000672.1:g.124220735del
GRCh37
NC_000010.9:g.124210725del
NCBI36
NG_011554.1:g.4695del
Transcript Alleles
HGVS
Amino-acid change
ENST00000648167.1:c.154+2510del
ENSP00000498033.1:n.154+2510del
XR_946382.1:n.142del
XR_946383.1:n.142del
XR_946384.1:n.142del
XR_946385.1:n.142del
XR_946382.2:n.170del
XR_946383.2:n.170del
XR_946384.2:n.146del
XR_946385.2:n.170del
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