ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826831464
Gene: MCCC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
167270
ClinVar RCV Id:
RCV000153464
RCV003133152
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001280202.1:p.Ile350Phe
CA234235
NM_001293273.2:c.1048A>T