Allele Registry

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.

Canonical Allele Identifier: PA2741810067

Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2892452

ClinVar RCV Id: RCV003632546

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Pro149_Gly154dup	CA626486269 NM_000088.4:c.455_456insTCCCGGACCTCCCGGACC CA2638681687 NM_000088.4:c.441_458dup