ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580444039
Gene: NEFH
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV002710883
ClinVar Variation:
1963061
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066554.2:p.Ser81Asn
CA411122157
NM_021076.4:c.242G>A