Canonical Allele Identifier: PA2741810203
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2579137
ClinVar RCV Id: RCV003327333
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Gly476Arg
CA291545458
NM_000088.4:c.1426G>C
CA291545460
NM_000088.4:c.1426G>A