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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:
CA2529319610
Gene: HTRA1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.122461547_122461568del , CM000672.2:g.122461547_122461568del
GRCh38
NC_000010.10:g.124221063_124221084del , CM000672.1:g.124221063_124221084del
GRCh37
NC_000010.9:g.124211053_124211074del
NCBI36
NG_011554.1:g.5023_5044del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000648167.1:c.154+2838_154+2859del
ENSP00000498033.1:n.154+2838_154+2859del
ENST00000368984.7:c.-106_-85del
ENSP00000357980.3:n.-106_-85del
NM_002775.4:c.-106_-85del
NP_002766.1:n.-106_-85del
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