Canonical Allele Identifier: PA1139691768
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 953286
ClinVar RCV Id: RCV001225554 RCV004548076
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Asp1441Tyr
CA291542763
NM_000088.4:c.4321G>T