Canonical Allele Identifier: PA2741810341
Gene: COL1A1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Gly950Arg
CA291543152
NM_000088.4:c.2848G>A
CA400205167
NM_000088.4:c.2848G>C