ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915954203
Gene: COL1A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000079.2:p.Pro143Ser
CA291550400
NM_000088.4:c.427C>T