ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825369306
Gene: MATCAP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035805.1:p.Leu415Met
CA8102519
NM_001040715.2:c.1243C>A