Canonical Allele Identifier: PA2741810202
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2727698
ClinVar RCV Id: RCV003518558
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Pro475His
CA400217735
NM_000088.4:c.1424C>A