ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916073038
Gene: MLC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4718
ClinVar RCV Id:
RCV000004983
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_631941.1:p.Asn141Ser
CA253252
NM_139202.3:c.422A>G