Canonical Allele Identifier: PA2499227997
Gene: COL1A1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Trp1325Cys
CA400193156
NM_000088.4:c.3975G>T
CA400193159
NM_000088.4:c.3975G>C