Canonical Allele Identifier: PA2580103746
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1804449
ClinVar RCV Id: RCV002469750
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Arg244Ser
CA400224196
NM_000088.4:c.730C>A