Canonical Allele Identifier: PA281084
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17285
ClinVar RCV Id: RCV000018826 RCV002247357
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Gly272Cys
CA281082
NM_000088.4:c.814G>T