Canonical Allele Identifier: PA2499227958
Gene: COL1A1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Pro565Leu
CA8645133
NM_000088.4:c.1694C>T
CA645569635
NM_000088.4:c.1694_1695delinsTT