Canonical Allele Identifier: PA1139691035
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 948427
ClinVar RCV Id: RCV001219681 RCV001587241 RCV002276664
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Ala559Thr
CA8645139
NM_000088.4:c.1675G>A