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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:
CA1858359249
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.79730987_79730991delinsGTTCC , CM000671.2:g.79730987_79730991delinsGTTCC
GRCh38
NC_000009.11:g.82345902_82345906delinsGTTCC , CM000671.1:g.82345902_82345906delinsGTTCC
GRCh37
NC_000009.10:g.81535722_81535726delinsGTTCC
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_929980.1:n.1019+675_1019+679delinsGTTCC
Search 100 bp 5'
Search 100 bp 3'