Canonical Allele Identifier: PA257889
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17324
ClinVar RCV Id: RCV000018865 RCV000548768 RCV003327362
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Gly530Ser
CA257887
NM_000088.4:c.1588G>A