ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA312789
Gene: MMUT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
203861
ClinVar RCV Id:
RCV000186062
RCV001827993
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000246.2:p.Lys124_Asp125insGlu
CA312788
NM_000255.4:c.372_374dup